Sign in
GeneticsbioRxiv
Preprint

A Quantitative Model for RhD-Negative Allele Frequency Peaks in Ibero Berber Populations via Synergistic Selection

Javier Cayetano UbauiD, Roxanna Isabel Chipre GomeziD

Abstract

The RhD-negative blood type reaches its global frequency peak in the Basque population ([~]30-35%), with a secondary peak in isolated Berber groups ([~]15-20%). This discontinuous distribution challenges models based solely on demography or drift. We propose a quantitative model in which allele frequency dynamics are shaped by conditional synergistic selection operating within a unique eco-evolutionary niche. Our framework synthesizes archaeogenomic data to show that admixture between indigenous Western Hunter-Gatherers (carrying a high-frequency RHD deletion) and incoming Neolithic farmers (carrying the SLC24A5 allele) in Iberia generated statistical associations between these unlinked loci. Population-genetic modeling indicates that selection acting on this multi-locus genotype combination can drive co-amplification of both alleles. We argue that this process was maximized in the proto-Basque region--a biocultural refuge characterized by geographic isolation, resource stability, and reduced effective cost of Hemolytic Disease of the Newborn. Subsequent Neolithic gene flow across the Strait of Gibraltar provides a parsimonious mechanism for the shared European RHD deletion observed in Berber populations. Forward-time Wright-Fisher simulations in a structured three-deme framework demonstrate that models incorporating synergistic selection robustly reproduce the observed Ibero-Berber discontinuity across a broad region of parameter space, whereas drift-only models achieve similar outcomes only under comparatively restricted parameter configurations. Parsimony volume comparisons quantify this difference in robustness. Additional deterministic and finite-population simulations confirm that the inferred parameter regime permits directional amplification under both mean-field and stochastic reproduction. Together, these results provide a testable evolutionary framework integrating genetics, environmental history, and epidemiology to explain one of the most striking allele-frequency outliers in human populations.

PDFDOI

02 /Specification & Classification

Click any tag to browse matching papers

Reproducibility ledger

Nobody has reported trying to reproduce this paper yet. Did you replicate an experiment or run the code? Your report saves the next lab a week.

Sign in to file a reproducibility report.